Canonical Allele Identifier: CA1420316

Gene: PYCR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.225922362G>A , CM000663.2:g.225922362G>A	GRCh38
NC_000001.10:g.226110062G>A , CM000663.1:g.226110062G>A	GRCh37
NC_000001.9:g.224176685G>A	NCBI36
NG_044963.1:g.6979C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343818.11:c.160C>T MANE Select	ENSP00000342502.6:p.Arg54Cys
ENST00000343818.10:c.160C>T	ENSP00000342502.6:p.Arg54Cys
ENST00000432920.2:c.160C>T	ENSP00000414068.2:p.Arg54Cys
ENST00000446534.1:n.718C>T
ENST00000472798.2:c.52C>T	ENSP00000480779.1:p.Arg18Cys
ENST00000478402.5:n.1645C>T
ENST00000489681.5:c.52C>T	ENSP00000482614.1:p.Arg18Cys
ENST00000612039.4:c.160C>T	ENSP00000478165.1:p.Arg54Cys
ENST00000612651.4:c.158C>T	ENSP00000482845.1:p.Thr53Met
NM_001271681.1:c.160C>T	NP_001258610.1:p.Arg54Cys
NM_013328.3:c.160C>T	NP_037460.2:p.Arg54Cys
NM_013328.4:c.160C>T MANE Select	NP_037460.2:p.Arg54Cys
NM_001271681.2:c.160C>T	NP_001258610.1:p.Arg54Cys